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Page 1
Two functional lupus-associated BLK promoter variants control cell-type- and developmental-stage-specific transcription.
Guthridge JM, Lu R, Sun H, Sun C, Wiley GB, Dominguez N, Macwana SR, Lessard CJ, Kim-Howard X, Cobb BL, Kaufman KM, Kelly JA, Langefeld CD, Adler AJ, Harley IT, Merrill JT, Gilkeson GS, Kamen DL, Niewold TB, Brown EE, Edberg JC, Petri MA, Ramsey-Goldman R, Reveille JD, Vilá LM, Kimberly RP, Freedman BI, Stevens AM, Boackle SA, Criswell LA, Vyse TJ, Behrens TW, Jacob CO, Alarcón-Riquelme ME, Sivils KL, Choi J, Joo YB, Bang SY, Lee HS, Bae SC, Shen N, Qian X, Tsao BP, Scofield RH, Harley JB, Webb CF, Wakeland EK, James JA, Nath SK, Graham RR, Gaffney PM. Guthridge JM, et al. Am J Hum Genet. 2014 Apr 3;94(4):586-98. doi: 10.1016/j.ajhg.2014.03.008. Am J Hum Genet. 2014. PMID: 24702955 Free PMC article.
ABIN1 dysfunction as a genetic basis for lupus nephritis.
Caster DJ, Korte EA, Nanda SK, McLeish KR, Oliver RK, G'sell RT, Sheehan RM, Freeman DW, Coventry SC, Kelly JA, Guthridge JM, James JA, Sivils KL, Alarcon-Riquelme ME, Scofield RH, Adrianto I, Gaffney PM, Stevens AM, Freedman BI, Langefeld CD, Tsao BP, Pons-Estel BA, Jacob CO, Kamen DL, Gilkeson GS, Brown EE, Alarcon GS, Edberg JC, Kimberly RP, Martin J, Merrill JT, Harley JB, Kaufman KM, Reveille JD, Anaya JM, Criswell LA, Vila LM, Petri M, Ramsey-Goldman R, Bae SC, Boackle SA, Vyse TJ, Niewold TB, Cohen P, Powell DW. Caster DJ, et al. J Am Soc Nephrol. 2013 Nov;24(11):1743-54. doi: 10.1681/ASN.2013020148. Epub 2013 Aug 22. J Am Soc Nephrol. 2013. PMID: 23970121 Free PMC article.
Genetic associations of leptin-related polymorphisms with systemic lupus erythematosus.
Zhao J, Wu H, Langefeld CD, Kaufman KM, Kelly JA, Bae SC; Marta E. Alarcón-Riquelme for the BIOLUPUS and GENLES networks; Alarcón GS, Anaya JM, Criswell LA, Freedman BI, Kamen DL, Gilkeson GS, Jacob CO, James JA, Merrill JT, Gaffney PM, Sivils KM, Niewold TB, Petri MA, Song ST, Jeong HJ, Ramsey-Goldman R, Reveille JD, Scofield RH, Stevens AM, Boackle SA, Vilá LM, Chang DM, Song YW, Vyse TJ, Harley JB, Brown EE, Edberg JC, Kimberly RP, Hahn BH, Grossman JM, Tsao BP, La Cava A. Zhao J, et al. Clin Immunol. 2015 Dec;161(2):157-62. doi: 10.1016/j.clim.2015.09.007. Epub 2015 Sep 16. Clin Immunol. 2015. PMID: 26385092 Free PMC article.
Decreased SMG7 expression associates with lupus-risk variants and elevated antinuclear antibody production.
Deng Y, Zhao J, Sakurai D, Sestak AL, Osadchiy V, Langefeld CD, Kaufman KM, Kelly JA, James JA, Petri MA, Bae SC, Alarcón-Riquelme ME, Alarcón GS, Anaya JM, Criswell LA, Freedman BI, Kamen DL, Gilkeson GS, Jacob CO, Merrill JT, Gaffney PM, Sivils KM, Niewold TB, Ramsey-Goldman R, Reveille JD, Scofield RH, Stevens AM, Boackle SA, Vilá LM, Sohn II, Lee S, Chang DM, Song YW, Vyse TJ, Harley JB, Brown EE, Edberg JC, Kimberly RP, Cantor RM, Hahn BH, Grossman JM, Tsao BP. Deng Y, et al. Ann Rheum Dis. 2016 Nov;75(11):2007-2013. doi: 10.1136/annrheumdis-2015-208441. Epub 2016 Jan 18. Ann Rheum Dis. 2016. PMID: 26783109 Free PMC article.
A plausibly causal functional lupus-associated risk variant in the STAT1-STAT4 locus.
Patel ZH, Lu X, Miller D, Forney CR, Lee J, Lynch A, Schroeder C, Parks L, Magnusen AF, Chen X, Pujato M, Maddox A, Zoller EE, Namjou B, Brunner HI, Henrickson M, Huggins JL, Williams AH, Ziegler JT, Comeau ME, Marion MC, Glenn SB, Adler A, Shen N, Nath SK, Stevens AM, Freedman BI, Pons-Estel BA, Tsao BP, Jacob CO, Kamen DL, Brown EE, Gilkeson GS, Alarcón GS, Martin J, Reveille JD, Anaya JM, James JA, Sivils KL, Criswell LA, Vilá LM, Petri M, Scofield RH, Kimberly RP, Edberg JC, Ramsey-Goldman R, Bang SY, Lee HS, Bae SC, Boackle SA, Cunninghame Graham D, Vyse TJ, Merrill JT, Niewold TB, Ainsworth HC, Silverman ED, Weisman MH, Wallace DJ, Raj P, Guthridge JM, Gaffney PM, Kelly JA, Alarcón-Riquelme ME, Langefeld CD, Wakeland EK, Kaufman KM, Weirauch MT, Harley JB, Kottyan LC. Patel ZH, et al. Hum Mol Genet. 2018 Jul 1;27(13):2392-2404. doi: 10.1093/hmg/ddy140. Hum Mol Genet. 2018. PMID: 29912393 Free PMC article. Clinical Trial.
The IRF5-TNPO3 association with systemic lupus erythematosus has two components that other autoimmune disorders variably share.
Kottyan LC, Zoller EE, Bene J, Lu X, Kelly JA, Rupert AM, Lessard CJ, Vaughn SE, Marion M, Weirauch MT, Namjou B, Adler A, Rasmussen A, Glenn S, Montgomery CG, Hirschfield GM, Xie G, Coltescu C, Amos C, Li H, Ice JA, Nath SK, Mariette X, Bowman S; UK Primary Sjögren's Syndrome Registry; Rischmueller M, Lester S, Brun JG, Gøransson LG, Harboe E, Omdal R, Cunninghame-Graham DS, Vyse T, Miceli-Richard C, Brennan MT, Lessard JA, Wahren-Herlenius M, Kvarnström M, Illei GG, Witte T, Jonsson R, Eriksson P, Nordmark G, Ng WF; UK Primary Sjögren's Syndrome Registry; Anaya JM, Rhodus NL, Segal BM, Merrill JT, James JA, Guthridge JM, Scofield RH, Alarcon-Riquelme M, Bae SC, Boackle SA, Criswell LA, Gilkeson G, Kamen DL, Jacob CO, Kimberly R, Brown E, Edberg J, Alarcón GS, Reveille JD, Vilá LM, Petri M, Ramsey-Goldman R, Freedman BI, Niewold T, Stevens AM, Tsao BP, Ying J, Mayes MD, Gorlova OY, Wakeland W, Radstake T, Martin E, Martin J, Siminovitch K, Moser Sivils KL, Gaffney PM, Langefeld CD, Harley JB, Kaufman KM. Kottyan LC, et al. Hum Mol Genet. 2015 Jan 15;24(2):582-96. doi: 10.1093/hmg/ddu455. Epub 2014 Sep 8. Hum Mol Genet. 2015. PMID: 25205108 Free PMC article.
Impact of genetic ancestry and sociodemographic status on the clinical expression of systemic lupus erythematosus in American Indian-European populations.
Sánchez E, Rasmussen A, Riba L, Acevedo-Vasquez E, Kelly JA, Langefeld CD, Williams AH, Ziegler JT, Comeau ME, Marion MC, García-De La Torre I, Maradiaga-Ceceña MA, Cardiel MH, Esquivel-Valerio JA, Rodriguez-Amado J, Moctezuma JF, Miranda P, Perandones CE, Castel C, Laborde HA, Alba P, Musuruana JL, Goecke IA, Anaya JM, Kaufman KM, Adler A, Glenn SB, Brown EE, Alarcón GS, Kimberly RP, Edberg JC, Vilá LM, Criswell LA, Gilkeson GS, Niewold TB, Martín J, Vyse TJ, Boackle SA, Ramsey-Goldman R, Scofield RH, Petri M, Merrill JT, Reveille JD, Tsao BP, Orozco L, Baca V, Moser KL, Gaffney PM, James JA, Harley JB, Tusié-Luna T, Pons-Estel BA, Jacob CO, Alarcón-Riquelme ME. Sánchez E, et al. Arthritis Rheum. 2012 Nov;64(11):3687-94. doi: 10.1002/art.34650. Arthritis Rheum. 2012. PMID: 22886787 Free PMC article.
Preferential binding to Elk-1 by SLE-associated IL10 risk allele upregulates IL10 expression.
Sakurai D, Zhao J, Deng Y, Kelly JA, Brown EE, Harley JB, Bae SC, Alarcόn-Riquelme ME; BIOLUPUS and GENLES networks; Edberg JC, Kimberly RP, Ramsey-Goldman R, Petri MA, Reveille JD, Vilá LM, Alarcón GS, Kaufman KM, Vyse TJ, Jacob CO, Gaffney PM, Sivils KM, James JA, Kamen DL, Gilkeson GS, Niewold TB, Merrill JT, Scofield RH, Criswell LA, Stevens AM, Boackle SA, Kim JH, Choi J, Pons-Estel BA; Argentine Collaborative Group; Freedman BI, Anaya JM, Martin J, Yu CY, Chang DM, Song YW, Langefeld CD, Chen W, Grossman JM, Cantor RM, Hahn BH, Tsao BP. Sakurai D, et al. PLoS Genet. 2013;9(10):e1003870. doi: 10.1371/journal.pgen.1003870. Epub 2013 Oct 10. PLoS Genet. 2013. PMID: 24130510 Free PMC article.
32 results